Linked Life Data

6705562

Source:http://linkedlifedata.com/resource/pubmed/id/6705562

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1984-5-23
pubmed:abstractText
A Mexican 181/2-year-old girl with short stature, primary amenorrhea, and mild Turner stigmata was found to have a 45,X/46,X,ter rea(X;X)(p22.3;p22.3) karyotype in her lymphocytes. The rearranged chromosome was twice the size of a normal X, appeared to be attached head-to-head, had no detectable chromatin loss, only one primary constriction, constitutive heterochromatin at both the centromere and pseudocentromere regions, was mitotically stable, and always showed late replication. From the analysis of this and other X;X terminal rearrangements we draw four conclusions: (1) Terminal rearrangements may arise either by telomeric fusion (tel fus) without loss of genetic material or from a conventional telomeric translocation. (2) Telomeric fusions between homologous chromosomes (the commonest type) can be secondary to impaired telomeric replication. (3) Phenotypically, patients with an X;X terminal rearrangement show great variability which depends mainly on whether or not chromatin has been lost in the rejoining process and a 45,X clone. (4) Patients with an X;X telomeric fusion without mosaicism are likely to have an XXX phenotype, whereas turneroid features are expected in mixoploidies that include an X monosomic clone and in cases of translocations involving the short arms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0301-0171
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
23-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
On telomere replication and fusion in eukaryotes: apropos of a case of 45,X/46,X,ter rea(X;X)(p22.3;p22.3).
pubmed:publicationType
Journal Article, Case Reports